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    RAB41 RAB41, member RAS oncogene family [ Homo sapiens (human) ]

    Gene ID: 347517, updated on 10-Dec-2024

    Summary

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    Official Symbol
    RAB41provided by HGNC
    Official Full Name
    RAB41, member RAS oncogene familyprovided by HGNC
    Primary source
    HGNC:HGNC:18293
    See related
    Ensembl:ENSG00000147127 AllianceGenome:HGNC:18293
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes a small GTP-binding protein that belongs to the largest family within the Ras superfamily. These proteins function as regulators of membrane trafficking. They cycle between inactive GDP-bound and activated GTP-bound states, which is controlled by GTP hydrolysis-activating proteins (GAPs). This family member can be activated by the GAP protein RN-Tre, and it is localized to the Golgi complex. [provided by RefSeq, May 2010]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See RAB41 in Genome Data Viewer
    Location:
    Xq13.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (70282172..70285002)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (68715490..68718320)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (69502022..69504852)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5483 Neighboring gene pyrimidinergic receptor P2Y4 Neighboring gene arrestin 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20889 Neighboring gene PDZ domain containing 11 Neighboring gene kinesin family member 4A Neighboring gene TRAPPC2L pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Rab41-mediated ESCRT machinery repairs membrane rupture by a bacterial toxin in xenophagy. Nozawa T, et al. Nat Commun, 2023 Oct 6. PMID 37802980, Free PMC Article
    2. Rab41 is a novel regulator of Golgi apparatus organization that is needed for ER-to-Golgi trafficking and cell growth. Liu S, et al. PLoS One, 2013. PMID 23936529, Free PMC Article
    3. Molecular mechanisms of Streptococcus pneumoniae-targeted autophagy via pneumolysin, Golgi-resident Rab41, and Nedd4-1-mediated K63-linked ubiquitination. Ogawa M, et al. Cell Microbiol, 2018 Aug. PMID 29582580
    4. A GTPase-activating protein controls Rab5 function in endocytic trafficking. Haas AK, et al. Nat Cell Biol, 2005 Sep. PMID 16086013
    5. Evolution of the Rab family of small GTP-binding proteins. Pereira-Leal JB, et al. J Mol Biol, 2001 Nov 2. PMID 11697911

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Rab41-mediated ESCRT machinery repairs membrane rupture by a bacterial toxin in xenophagy.
      Title: Rab41-mediated ESCRT machinery repairs membrane rupture by a bacterial toxin in xenophagy.
    2. Streptococcus pneumoniae is entrapped by selective autophagy in pneumolysin- and ubiquitin-p62-LC3 cargo-dependent manners. Streptococcus pneumoniae-containing autophagic vesicles (PcAV) were formed only in the presence of Rab41-positive intact Golgi apparatuses. Nedd4-1 was recruited to PcAV which played a pivotal role in K63-linked polyubiquitin chain (K63Ub) generation on PcAV and elimination of intracellular bacteria.
      Title: Molecular mechanisms of Streptococcus pneumoniae-targeted autophagy via pneumolysin, Golgi-resident Rab41, and Nedd4-1-mediated K63-linked ubiquitination.
    3. distinctive Rab41 effects on Golgi organization, ER-to-Golgi trafficking and cell growth
      Title: Rab41 is a novel regulator of Golgi apparatus organization that is needed for ER-to-Golgi trafficking and cell growth.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intra-Golgi vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retrograde transport, endosome to Golgi IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in endomembrane system IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    ras-related protein Rab-41
    Names
    RAB41, member RAS homolog family

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_021267.1 RefSeqGene

      Range
      5001..7831
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001032726.3 → NP_001027898.2  ras-related protein Rab-41 isoform 1

      See identical proteins and their annotated locations for NP_001027898.2

      Status: REVIEWED

      Source sequence(s)
      AI126463, AL357752, BC117239
      Consensus CDS
      CCDS35322.2
      UniProtKB/Swiss-Prot
      Q5JT25
      Related
      ENSP00000276066.4, ENST00000276066.4
      Conserved Domains (1) summary
      cd01861
      Location:33 → 191
      Rab6; Rab GTPase family 6 (Rab6)

    2. NM_001363807.1 → NP_001350736.1  ras-related protein Rab-41 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL357752
      Consensus CDS
      CCDS87756.1
      UniProtKB/Swiss-Prot
      Q17RQ0, Q5JT25
      Related
      ENSP00000363597.2, ENST00000374473.6
      Conserved Domains (1) summary
      cd01861
      Location:33 → 192
      Rab6; Rab GTPase family 6 (Rab6)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      70282172..70285002
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530948.4 → XP_011529250.1  ras-related protein Rab-41 isoform X1

      Conserved Domains (2) summary
      smart00175
      Location:33 → 195
      RAB; Rab subfamily of small GTPases
      cd01861
      Location:33 → 192
      Rab6; Rab GTPase family 6 (Rab6)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      68715490..68718320
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327002.1 → XP_054182977.1  ras-related protein Rab-41 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5JT25.2 GenPept UniProtKB/Swiss-Prot:Q5JT25

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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